Detalhe da pesquisa
1.
The molecular genetics of human appendicular skeleton.
Mol Genet Genomics
; 297(5): 1195-1214, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35907958
2.
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis
; 37(1): 243-252, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34719772
3.
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Ann Hum Genet
; 85(5): 147-154, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33881165
4.
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
J Pak Med Assoc
; 71(10): 2391-2396, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34974577
5.
Investigating the Impact of Various Parameters On the Activity of Acid Phosphatases from Seedlings of Coronopus didymus.
J Proteome Res
; 19(8): 3201-3210, 2020 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32551656
6.
Current updates on genetic spectrum of usher syndrome.
Nucleosides Nucleotides Nucleic Acids
; : 1-24, 2024 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38718411
7.
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
Genes (Basel)
; 14(4)2023 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37107627
8.
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Front Endocrinol (Lausanne)
; 14: 1066182, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36960394
9.
In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene.
Genes (Basel)
; 13(4)2022 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35456478
10.
Investigating the thermodynamic and kinetics properties of acid phosphatase extracted and purified from seedlings of Chenopodium murale.
Int J Biol Macromol
; 165(Pt A): 1475-1481, 2020 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33058972
11.
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med
; 8(2): e1060, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31923348
12.
Electrochemical and spectroscopic investigations of protonated ferrocene-DNA intercalation.
Anal Sci
; 24(11): 1437-41, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18997372